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Gene: Zfp469 MGI:2684868

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Gene Summary

Name:
zinc finger protein 469
Synonyms:
Gm22,  LOC195209

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lymphocyte cell number Zfp469em1(IMPC)Mbp HOM Early adult 5.67×10-12
decreased body length Zfp469em1(IMPC)Mbp HOM Early adult 5.13×10-06
abnormal vitreous body morphology Zfp469em1(IMPC)Mbp HOM   Early adult 6.05×10-06
abnormal auditory brainstem response Zfp469em1(IMPC)Mbp HOM   Early adult 1.83×10-06
enlarged kidney Zfp469em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Zfp469em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Zfp469em1(IMPC)Mbp HOM Early adult 6.99×10-05
cataract Zfp469em1(IMPC)Mbp HOM   Early adult 5.38×10-06
abnormal seminal vesicle morphology Zfp469em1(IMPC)Mbp HOM Early adult 0.00
increased leukocyte cell number Zfp469em1(IMPC)Mbp HOM Early adult 9.39×10-07
decreased grip strength Zfp469em1(IMPC)Mbp HOM   Early adult 2.42×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

44 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Zfp469 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zfp469 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... OMIM:229200
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... ORPHA:90354

The table below shows human diseases predicted to be associated to Zfp469 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... OMIM:614170
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... OMIM:229200
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Dermatitis, Atopic
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin OMIM:603165
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Hypertelorism OMIM:244600
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Leber Congenital Amaurosis 8
Keratoconus, Deeply set eye, Cataract OMIM:613835
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Corneal opacity ORPHA:2370
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Retinitis Pigmentosa
Keratoconus, Cataract, Obesity, Atypical scarring of skin ORPHA:791
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract, Proptosis OMIM:616171
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Microtriplication 11Q24.1
Keratoconus, Hypertelorism, Synophrys, Obesity, Long eyelashes, Thick eyebrow ORPHA:289522
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Deeply set eye, Astigmatism, Distal arthrogryposis, Congenital finger ... OMIM:108145
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... ORPHA:90354
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Proptosis ORPHA:85172
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Hypertelorism, Decreased corneal thickness, Contracture of the proximal in... ORPHA:293967
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Meckel Syndrome, Type 8
Low-set ears, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ... OMIM:613885
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis, Corneal opacity, Congenital diaphragmatic hernia OMIM:166300
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Corneal opacity, Hypertelorism OMIM:618961
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Joint contracture, Cataract, Proptosis OMIM:617481
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Leber Congenital Amaurosis 9
Keratoconus, Macular scar OMIM:608553
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Failure to thrive OMIM:242150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Hepatomegaly, Cataract, Renal insufficiency, Elevated circ... OMIM:608836
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Anemia, Leukopenia, Nephrotic syndrome, F... OMIM:617303
Tetralogy Of Fallot
Proptosis OMIM:187500
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hearing impairment ORPHA:79087
Costello Syndrome
Keratoconus, Failure to thrive in infancy, Abnormal dental enamel morphology, Redundant skin, Abn... ORPHA:3071
Stickler Syndrome Type 1
Cataract, Proptosis ORPHA:90653
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Donnai-Barrow Syndrome
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Widow's peak, Proptosis, Umbilical h... ORPHA:2143
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Hypertelorism, Hypotelorism, Low posterior hairline, Astigmatism, Prop... OMIM:613174
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Rieger anomaly, Proptosis, Abnormally prominent line of Schwalbe OMIM:109120
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Microcephaly 5, Primary, Autosomal Recessive
Proptosis, Highly arched eyebrow OMIM:608716
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Alagille Syndrome
Keratoconus, Corneal dystrophy, Hypertelorism, Abnormal pupil morphology, Deeply set eye, Failure... ORPHA:52
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Hypertelorism, Congenital cont... ORPHA:352490
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... OMIM:602482
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Hypertelorism, Proptosis, Umbi... OMIM:615834
Pontocerebellar Hypoplasia Type 10
Proptosis, Long eyelashes, Highly arched eyebrow ORPHA:411493
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Vitamin K Antagonist Embryofetopathy
Cataract, Proptosis, Hypertelorism ORPHA:1914
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Houge-Janssens Syndrome 3
Inguinal hernia, Hypertelorism, Proptosis, Umbilical hernia, Megalocornea OMIM:618354
Cherubism
Proptosis ORPHA:184
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Tetralogy Of Fallot
Proptosis ORPHA:3303
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Erythema, Elbow flexion contracture, Limbal stem cell de... OMIM:618175
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Morm Syndrome
Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy ORPHA:75858
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Redundant skin, Hypertelorism, Sparse eyebrow, Shallow a... OMIM:230740
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Hearing impairment, Microcytic anemia, Hepatospl... ORPHA:168569
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Flexion contracture, Proptosis, Decreased body weight, Failure to thrive OMIM:618346
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, H... ORPHA:1473
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Vernal Keratoconjunctivitis
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... ORPHA:70476
Arterial Tortuosity Syndrome
Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Hypertelorism, Flex... OMIM:208050
Muckle-Wells Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunc... OMIM:191900
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... OMIM:232220
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Crouzon Syndrome
Proptosis, Conjunctivitis, Iris coloboma, Hypertelorism ORPHA:207
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Filippi Syndrome
Proptosis, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Early balding, Umbilical ... ORPHA:2067
Short Syndrome
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal dental enamel morphology, Inguinal her... ORPHA:3163
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Hypertelo... OMIM:617201
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Trisomy 12P
Supernumerary nipple, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow ORPHA:1699
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... ORPHA:505248
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Highly arched eyebrow, Cutis laxa, Proptosis, Long eyelashes OMIM:619451
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Lowry-Maclean Syndrome
Inguinal hernia, Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Propto... ORPHA:2409
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facia... OMIM:308800
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... ORPHA:500095
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Pancreatic cysts, Splenomegaly,... OMIM:208540
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flexion contracture, Proptosis ORPHA:157965
Pontocerebellar Hypoplasia, Type 3
Proptosis, Decreased body weight OMIM:608027
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Low-set ears, Cystic renal dysplasia, En... OMIM:608022
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Posterior subcapsular cataract, Bilateral camptodactyly, Astigmatism, Proptosis, Umbilical hernia OMIM:619234
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Angelman Syndrome
Keratoconus, Obesity, Astigmatism, Fair hair, Iris hypopigmentation ORPHA:72
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Donnai-Barrow Syndrome
Omphalocele, Cataract, Congenital diaphragmatic hernia, Hypertelorism, Hypoplasia of the iris, Pr... OMIM:222448
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Stickler Syndrome Type 2
Retinal detachment, Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... ORPHA:529799
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Flexion contracture, Lack of s... ORPHA:90153
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Corneal opacity, Lipoatrophy, Hypertelorism, Hypotelorism, Corneal stromal ede... OMIM:601812
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Arterial Tortuosity Syndrome
Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Hypertelorism, Kerat... ORPHA:3342
Holoprosencephaly 11
Synophrys, Proptosis, Thick eyebrow, Hypotelorism OMIM:614226
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Crouzon Syndrome
Hypertelorism, Keratitis, Proptosis, Conjunctivitis, Shallow orbits OMIM:123500
Prolidase Deficiency
Hypertelorism, Skin ulcer, Low posterior hairline, Proptosis, Facial hirsutism, Failure to thrive... OMIM:170100
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Absence of subcutaneous fat, Ge... OMIM:616914
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Proptosis OMIM:242500
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Polysplenia, Low-set ears, Cystic r... OMIM:200995
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... ORPHA:79259
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... OMIM:232200
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Galactosemia I
Hemolytic anemia, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Increased level of gala... OMIM:230400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Proptosis, Long eyelashes, Hypertelorism OMIM:618577
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hypertelorism OMIM:612247
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... ORPHA:464329
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Kniest Dysplasia
Hip contracture, Inguinal hernia, Cataract, Proptosis, Umbilical hernia OMIM:156550
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Absent brainstem auditory responses, Cr... ORPHA:90321
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Low-set ears, Ambiguous g... OMIM:612651
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Sensorineu... OMIM:222300
Chops Syndrome
Curly hair, Cataract, Thick hair, Hypertelorism, Synophrys, Obesity, Coarse hair, Proptosis, Long... OMIM:616368
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Low-set ears, Splenic cyst, Enlarge... OMIM:618188
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lack of skin elasticity, Proptosis, ... OMIM:615381
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Obesity OMIM:618821
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... OMIM:607115
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... OMIM:604278
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Oliguria, Progressive hearing impairment, Lymphocytosis, ... ORPHA:514
Cenani-Lenz Syndrome
Cataract, Abnormal dental enamel morphology, Proptosis, Hypertelorism ORPHA:3258
Marshall Syndrome
Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Hypertelorism, Proptosis, Sparse hair ORPHA:560
Galactokinase Deficiency
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Hepatos... ORPHA:79237
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunctivitis, Renal amyloi... OMIM:120100
Wyburn-Mason Syndrome
Proptosis, Iris hypopigmentation ORPHA:53719
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Desbuquois Syndrome
Sparse hair, Proptosis, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Frontoocular Syndrome
Proptosis, Hypotelorism OMIM:605321
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Proptosis OMIM:606893
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis, Small for gestational age, Increased body weight OMIM:274300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Co... ORPHA:163934
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic sei... OMIM:146200
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Frias Syndrome
Proptosis, Hypertelorism OMIM:609640
Teebi Hypertelorism Syndrome 2
Proptosis, Thick eyebrow, Hypertelorism OMIM:619736
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Posterior helix pit, Poly... ORPHA:116
Pediatric-Onset Graves Disease
Keratitis, Failure to thrive, Proptosis ORPHA:525731
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... OMIM:259600
Prolidase Deficiency
Hypertelorism, Erythema, Low anterior hairline, Skin ulcer, White forelock, Proptosis, Dry skin, ... ORPHA:742
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancr... ORPHA:731
Developmental And Epileptic Encephalopathy 48
Proptosis, Long eyelashes OMIM:617276
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Muenke Syndrome
Proptosis, Low anterior hairline, Hypertelorism OMIM:602849
Neu-Laxova Syndrome 2
Cataract, Proptosis, Hypertelorism OMIM:616038
Caffey Disease
Proptosis, Cellulitis ORPHA:1310
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Frontotemporal hypertrichosis, Flexi... OMIM:263210
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Inguinal hernia, Microcornea, Excessive wrinkled skin, Palmoplantar cutis laxa OMIM:225400
Graves Disease, Susceptibility To, 1
Proptosis, Weight loss OMIM:275000
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Developmental cataract, Proptosis, Pterygium, Hirsutism ORPHA:1865
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Distal Deletion 10Q
Widow's peak, Hypotelorism, Astigmatism, Proptosis, Failure to thrive ORPHA:96148
Desbuquois Dysplasia 1
Developmental glaucoma, Proptosis, Obesity OMIM:251450
Lateral Meningocele Syndrome
Inguinal hernia, Hypertelorism, Low posterior hairline, Proptosis, Umbilical hernia, Iris coloboma ORPHA:2789
Craniofaciofrontodigital Syndrome
Thick hair, Large for gestational age, Hypertelorism, Low anterior hairline, Cutis laxa, Sacral h... ORPHA:363705
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Cataract, Pancytopenia, Renal insufficiency, Cryptorchidism, ... ORPHA:85321
Acrofrontofacionasal Dysostosis 2
Widow's peak, Redundant neck skin, Proptosis, Hypertelorism OMIM:239710
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Synophrys, Obesity, Fine hair, Proptosis, Long eyelashes OMIM:620250
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Camptodactyly of finger, Cachexia ORPHA:2774
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Fibrochondrogenesis 1
Omphalocele, Proptosis, Camptodactyly, Megalocornea, Joint contracture of the hand OMIM:228520
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Otospondylomegaepiphyseal Dysplasia
Cataract, Proptosis ORPHA:1427
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Thanatophoric Dysplasia
Proptosis, Redundant skin ORPHA:2655
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Leiomyomatosis, Diffuse, With Alport Syndrome
High-frequency sensorineural hearing impairment, Renal insufficiency, Cataract, Glomerular baseme... OMIM:308940
Neu-Laxova Syndrome
Cataract, Hypertelorism, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contractu... ORPHA:2671
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Microtia, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... OMIM:608978
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Alg9-Cdg
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, ... ORPHA:79328
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation, Proptosis, Flexion contracture of finger ORPHA:485
Oculoectodermal Syndrome
Supernumerary nipple, Microcornea, Astigmatism, Proptosis, Opacification of the corneal stroma, L... OMIM:600268
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
Thanatophoric Dysplasia Type 2
Proptosis, Redundant skin ORPHA:93274
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Proptosis, Hypertelorism ORPHA:93262
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Atrophic scars, Proptosis, Decreased body weight, Sparse hair, Joint contracture, Der... OMIM:615349
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney ORPHA:79128
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Ritscher-Schinzel Syndrome 4
Curly hair, Hypertelorism, Hypotelorism, Deeply set eye, Proptosis OMIM:619435
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Bohring-Opitz Syndrome
Thick hair, Supernumerary nipple, Hypertelorism, Flexion contracture, Low anterior hairline, Cuti... OMIM:605039
Developmental And Epileptic Encephalopathy 75
Proptosis, Hypertelorism OMIM:618437
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Saul-Wilson Syndrome
Cataract, Proptosis OMIM:618150
Carpenter Syndrome
Umbilical hernia, Abnormal cornea morphology, Obesity ORPHA:65759
Glycogen Storage Disease Of Heart, Lethal Congenital
EEG with burst suppression, Cataract, Enlarged kidney, Cardiomegaly OMIM:261740
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Iron def... ORPHA:1667
Marshall-Smith Syndrome
Failure to thrive, Generalized hirsutism, Proptosis, Hypertelorism ORPHA:561
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Posteriorly rotated ears, Elevated ci... OMIM:610377
19P13.12 Microdeletion Syndrome
Hypertelorism, Synophrys, Obesity, Proptosis, Arthrogryposis multiplex congenita, Generalized hir... ORPHA:254346
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Posteriorly rotated ears, Nephrocalcinosis, Low-set ears OMIM:617370
Optic Pathway Glioma
Proptosis ORPHA:2086
Apert Syndrome
Corneal erosion, Proptosis, Hypertelorism ORPHA:87
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Ogden Syndrome
Inguinal hernia, Cutis laxa, Fine hair, Proptosis, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis OMIM:614078
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Protruding ear, Hydrocele testis, Iron d... OMIM:300855
Donohue Syndrome
Severe failure to thrive, Adipose tissue loss, Proptosis, Hypertrichosis OMIM:246200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Cutis laxa, Fine hair, Proptosis, Thick eyebrow OMIM:614800
Immunodeficiency 92
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619652
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Retinal atrophy, Abnormal auditory evok... OMIM:216400
Muenke Syndrome
Hypopigmentation of hair, Proptosis, Hypertelorism ORPHA:53271
Juvenile Xanthogranuloma
Proptosis, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Sen... ORPHA:79330
Frank-Ter Haar Syndrome
Redundant neck skin, Hypertelorism, Developmental glaucoma, Buphthalmos, Proptosis, Camptodactyly... OMIM:249420
Microhydranencephaly
Multiple joint contractures, Proptosis OMIM:605013
Toriello-Lacassie-Droste Syndrome
Limbal dermoid, Abnormal conjunctiva morphology, Failure to thrive, Proptosis ORPHA:3339
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Hypertelorism, Synophrys, Hirsutism, Contracture of ... OMIM:615485
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Tyshchenko Syndrome
Proptosis, Low anterior hairline, Thick hair, Supernumerary nipple OMIM:615102
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Developmental glaucoma, Elbow fl... OMIM:245600
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Decreased response to growth hormon... OMIM:615873
Shashi-Pena Syndrome
Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Long eyelashes, Hypertrichosis OMIM:617190
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:133540
20Q13.33 Microdeletion Syndrome
Small for gestational age, Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Pr... ORPHA:261311
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Chitayat Syndrome
Proptosis, Hypertelorism OMIM:617180
Cornelia De Lange Syndrome 1
Inguinal hernia, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmatic hernia, Hiatus ... OMIM:122470
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Lipodystrophy, Camptodactyly of finger, Sparse axillary hair, Adipose tissue l... OMIM:256040
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Corneal opacity, Hypertelorism, ... ORPHA:536471
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Hypertelorism, Abnormal hair morphology, Synophrys, Low... ORPHA:251014
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Hypertelorism ORPHA:2165
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypertelorism, Obesity, Hypotelorism, Deeply set eye, Proptosis, Stella... ORPHA:177907
Congenital Myopathy 22A, Classic
Hip contracture, Synophrys, Achilles tendon contracture, Deeply set eye, Proptosis, Congenital fi... OMIM:620351
Dent Disease
Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula... ORPHA:1652
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ... OMIM:614008
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Sclerocornea, Congenital diaphragmatic hernia, Hypertelorism, High anterio... ORPHA:280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... OMIM:614643
Alpha-Mannosidosis, Infantile Form
Cataract, Corneal opacity, Highly arched eyebrow, Hypertelorism, Astigmatism, Proptosis, Umbilica... ORPHA:309282
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Proptosis, Redundant skin ORPHA:1860
Hennekam-Beemer Syndrome
Camptodactyly of finger, Erythema, Proptosis, Skin vesicle, Failure to thrive ORPHA:2135
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Congenital Disorder Of Glycosylation, Type Iig
Hypertelorism, Proptosis, Failure to thrive in infancy, Camptodactyly OMIM:611209
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Camptodactyly of finger, Elbow flexion contracture, Corneal arcus,... OMIM:602782
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypertelorism, Proptosis, Failure to thrive in infancy, Camptodactyly OMIM:613385
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Keratoconju... ORPHA:2363
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Microcornea, Atrophic scars, Proptosis, Dentinogenesis imperfecta, D... ORPHA:536467
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair, Proptosis ORPHA:1185
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... OMIM:618280
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis ORPHA:2522
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... ORPHA:247598
Localized Scleroderma
Fasciitis, Flexion contracture, Erythema, Deeply set eye, Patchy alopecia, Progressive loss of fa... ORPHA:90289
Short Stature With Microcephaly And Distinctive Facies
Sparse scalp hair, Small for gestational age, Sparse eyebrow, Proptosis, Decreased body weight OMIM:615789
Developmental And Epileptic Encephalopathy 80
Failure to thrive, Proptosis, Hypertelorism OMIM:618580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Proptosis OMIM:617895
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, Abnormal location of the eyebrow, Hyperte... ORPHA:141099
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Low-set ears... OMIM:306955
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Redundant neck skin, Hypertelorism, Proptosis, Hypertrichosis OMIM:235255
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Cinca Syndrome
Proptosis, Purpura ORPHA:1451
Dural Sinus Malformation
Chemosis, Proptosis ORPHA:97339
Cole-Carpenter Syndrome 2
Proptosis, Dentinogenesis imperfecta, Hypertelorism OMIM:616294
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypotelorism, Deeply set eye, Absent eyebrow, Alopecia, Hypertelorism, Absen... OMIM:264090
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis, Camptodactyly of finger, Low posterior hairline ORPHA:1323
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Hypertelorism, Proptosis, Long eyelashes, Camptodactyly OMIM:618529
Xylt1-Cdg
Truncal obesity, Synophrys, Proptosis, Hirsutism ORPHA:370930
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... OMIM:248370
Keppen-Lubinsky Syndrome
Lipodystrophy, Congenital generalized lipodystrophy, Flexion contracture, Proptosis, Shallow orbi... ORPHA:435628
Hyperostosis Cranialis Interna
Proptosis OMIM:144755
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... ORPHA:99027
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Hypotelorism, Proptosis, Arthrogryposis multiplex conge... ORPHA:2215
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Hypertelorism, Absent eyelashes, Low posterior hai... OMIM:115150
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked... ORPHA:171929
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... ORPHA:101085
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Distal Deletion 9P
Proptosis, Hernia, Hypertelorism ORPHA:1642
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... OMIM:608203
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... OMIM:617913
Aminopterin/Methotrexate Embryofetopathy
Proptosis, Hypertelorism ORPHA:1908
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive in infancy, Hiatus hernia... OMIM:615582
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Proptosis, Shallow orbits OMIM:619322
Melnick-Needles Syndrome
Omphalocele, Proptosis, Hypertelorism ORPHA:2484
Acrocraniofacial Dysostosis
Proptosis, Hypertelorism ORPHA:949
Antley-Bixler Syndrome
Proptosis, Camptodactyly of finger, Hypertelorism ORPHA:83
Roberts Syndrome
Cataract, Progressive flexion contractures, Hypertelorism, Knee flexion contracture, Proptosis, S... ORPHA:3103
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Hypertelorism, Fine hair, Proptosis, Sparse ... OMIM:222470
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Hepatomegaly ORPHA:79456
Restrictive Dermopathy 2
Proptosis OMIM:619793
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Osteopetrosis, Autosomal Recessive 5
Proptosis, Mydriasis OMIM:259720
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Proptosis, Hypertelorism, Knee flexion contracture OMIM:156400
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Hypertelorism, Shallow orbits, Proptosis, Minimal subcutaneous fat, Camptodactyl... OMIM:182212
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eye... ORPHA:286
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis ORPHA:440354
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphocytosis ORPHA:139402
Blomstrand Lethal Chondrodysplasia
Cataract, Proptosis ORPHA:50945
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Uterine prolapse, Ecchymosis, Alo... OMIM:130050
Cole-Carpenter Syndrome 1
Proptosis, Dentinogenesis imperfecta, Shallow orbits OMIM:112240
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Short nail, Ectopia lentis, Flexion contracture, Proptosis, Decreased body weight OMIM:271640
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
Dysostosis, Stanescu Type
Proptosis, Abnormal dental enamel morphology, Hypertelorism ORPHA:1798
Machado-Joseph Disease
Proptosis OMIM:109150
Stickler Syndrome
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Hypertelorism, Astigmatism... ORPHA:828
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... OMIM:614098
Neurofibromatosis Type 1
Abnormal hair quantity, Cataract, Corneal opacity, Multiple lipomas, Proptosis, Lisch nodules, He... ORPHA:636
Baller-Gerold Syndrome
Hypertelorism, Proptosis, Failure to thrive in infancy, Hypotelorism ORPHA:1225
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Thick eyebrow, Cataract, Small for gestational age, Highly arched eyebrow, Hyperte... OMIM:180849
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Hearing impairment, Splenomegaly, Cryptorchidism... OMIM:312870
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Proptosis, Nail dystrophy ORPHA:90154
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hypertelorism, Proptosis, Shallow orbits ORPHA:73230
Desbuquois Dysplasia 2
Truncal obesity, Synophrys, Proptosis OMIM:615777
Fibrochondrogenesis
Omphalocele, Proptosis, Camptodactyly of finger, Hypertelorism ORPHA:2021
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Limb joint contracture, Shoulder flexion contracture, Synophrys, Flexion contrac... OMIM:620369
Retinoblastoma
Leukocoria, Proptosis, Cellulitis, Hypopyon, Heterochromia iridis ORPHA:790
Pontocerebellar Hypoplasia, Type 10
Synophrys, Proptosis, Long eyelashes, Highly arched eyebrow OMIM:615803
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Proptosis, Hypertelorism ORPHA:1555
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Gl... ORPHA:3261
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Cataract, Thick hair, Highly arched eyebrow, Synophrys, Obesity, Proptosis, Long eyel... ORPHA:444077
Whipple Disease
Proptosis, Cachexia ORPHA:3452
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Ele... ORPHA:401973
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Proptosis, Small for gestational age, Weight loss ORPHA:424
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Sclerocornea, Congenital d... ORPHA:818
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreased nerve conduct... ORPHA:909
Pycnodysostosis
Overweight, Enamel hypoplasia, Proptosis ORPHA:763
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, Hypertelorism, Proptosis, Umbilical hernia, Failure to ... ORPHA:2462
20Q11.2 Microduplication Syndrome
Inguinal hernia, Proptosis ORPHA:363659
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... ORPHA:2714
Pfeiffer Syndrome Type 1
Proptosis, Hypertelorism ORPHA:93258
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hypertelorism, Synophrys, Deeply set eye, Proptosis, Sparse hair, Hirsutism OMIM:300966
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Redundant neck skin, Proptosis, Hypertelorism OMIM:123790
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Atypical scarring of skin, Keratoconjunc... ORPHA:285
Okamoto Syndrome
Omphalocele, Redundant neck skin, Hypertelorism, Extension of hair growth on temples to lateral e... ORPHA:2729
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Flexion contracture, Proptosis OMIM:215150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thick eyebrow, Cataract, Hypertelorism, Overweight, Synophrys, Obesity, Deeply set eye, Proptosis... OMIM:619475
Fanconi Anemia
Cataract, Hypertelorism, Weight loss, Aplasia/Hypoplasia of the iris, Astigmatism, Proptosis, Umb... ORPHA:84
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Waldenström Macroglobulinemia
Proptosis, Pallor, Purpura ORPHA:33226
Elsahy-Waters Syndrome
Cataract, Hypertelorism, Synophrys, Proptosis, Megalocornea, Thick eyebrow OMIM:211380
Peripheral Primitive Neuroectodermal Tumor
Proptosis, Weight loss ORPHA:370348
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Synophrys, Shallow orbits, Proptosis, Decreased... OMIM:602535
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Redundant neck skin, Sclerocornea, Hypertelorism, ... ORPHA:3472
Robinow Syndrome, Autosomal Dominant 2
Umbilical hernia, Proptosis, Hypertelorism, Camptodactyly OMIM:616331
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Proptosis, Failure to thrive in infancy, Camptodactyly ORPHA:228426
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Proptosis ORPHA:85184
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Flexion contracture, Proptosis, Shallow orbits, Camptodactyly OMIM:620029
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Small... OMIM:612289
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Urachal Cyst
Dysuria, Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Leukocytosis, Ur... ORPHA:488
Machado-Joseph Disease Type 1
Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis ORPHA:276241
Familial Infantile Myoclonic Epilepsy
Proptosis ORPHA:352582
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Congenital Myopathy 17
Distal arthrogryposis, Failure to thrive in infancy, Proptosis OMIM:618975
Atelosteogenesis Type I
Proptosis, Hypertelorism ORPHA:1190
Machado-Joseph Disease Type 3
Proptosis ORPHA:276244
Craniotubular Dysplasia, Ikegawa Type
Hypertelorism, Proptosis, Mydriasis OMIM:619727
Cole-Carpenter Syndrome
Proptosis, Abnormal dental enamel morphology ORPHA:2050
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Proptosis, Camptodactyly OMIM:207410
Arboleda-Tham Syndrome
Highly arched eyebrow, Deeply set eye, Astigmatism, Conjunctivitis, Proptosis, Thin eyebrow, Spar... OMIM:616268
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Protruding ear, Anemia, Developmental cataract, Low-set ... OMIM:620185
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, ... OMIM:612109
Alagille Syndrome 1
Duplicated collecting system, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratop... OMIM:118450
Hyperthyroidism, Nonautoimmune
Proptosis, Small for gestational age OMIM:609152
Familial Gestational Hyperthyroidism
Proptosis, Weight loss ORPHA:99819
Bohring-Opitz Syndrome
Hypertelorism, Synophrys, Bilateral wrist flexion contracture, Congenital contracture, Proptosis,... ORPHA:97297
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Knee flexion con... ORPHA:468631
Pfeiffer Syndrome Type 2
Proptosis, Hypertelorism ORPHA:93259
Acrocardiofacial Syndrome
Proptosis, Long eyelashes, Camptodactyly of finger, Hypertelorism ORPHA:2008
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Neu-Laxova Syndrome 1
Cataract, Hypertelorism, Absent eyelashes, Yellow subcutaneous tissue covered by thin, scaly skin... OMIM:256520
Wolf-Hirschhorn Syndrome
Rieger anomaly, Small for gestational age, Highly arched eyebrow, Hypertelorism, Low posterior ha... OMIM:194190
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Proptosis, Slender build OMIM:131300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Deeply set eye, Proptosis, Elbow flexion contracture ORPHA:508533
Sclerosteosis 1
Proptosis, Hypertelorism OMIM:269500
Osteoglophonic Dysplasia
Inguinal hernia, Camptodactyly of finger, Hypertelorism, Proptosis, Shallow orbits, Failure to th... OMIM:166250
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Elevated circulating C-reactive protein concentration ORPHA:676
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Hypomandibular Faciocranial Dysostosis
Proptosis ORPHA:1790
Pfeiffer Syndrome Type 3
Proptosis, Hypertelorism ORPHA:93260
Raine Syndrome
Highly arched eyebrow, Hypertelorism, Proptosis, Arthrogryposis multiplex congenita, Enamel hypop... OMIM:259775
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Sparse eyebrow, Hypertelorism, Proptosis, Shallow orbits, Slender buil... ORPHA:457359
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Hiatus hernia, ... OMIM:619488
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Hypertelorism, Proptosis, Long eyelashes, Camptodactyly OMIM:616894
Campomelic Dysplasia
Proptosis, Hypertelorism ORPHA:140
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... ORPHA:91500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Sparse scalp hair, Hypertelorism, Flexion contracture, Atrophic scars, Proptosis, Failure to thrive OMIM:130070
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Proptosis, Hypertelorism ORPHA:457395
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Cutis laxa, Proptosis, Dermal tr... OMIM:614437
Meester-Loeys Syndrome
Hypertelorism, Proptosis, Camptodactyly, Umbilical hernia, Joint contracture, Striae distensae, H... OMIM:300989
Melnick-Needles Syndrome
Omphalocele, Hypertelorism, Coarse hair, Proptosis, Frontal hirsutism, Failure to thrive OMIM:309350
Proteus Syndrome
Central heterochromia, Cataract, Abnormal dental enamel morphology, Cachexia, Hypertelorism, Abno... ORPHA:744
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Un... ORPHA:2036
Apert Syndrome
Hypertelorism, Proptosis, Shallow orbits OMIM:101200
Meier-Gorlin Syndrome 7
Proptosis, Breast aplasia, Thin eyebrow, Decreased body weight OMIM:617063
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Hypertelorism, Proptosis, Large for gestational age OMIM:617011
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Autosomal Recessive Robinow Syndrome
Alopecia, Inguinal hernia, Camptodactyly of finger, Hypertelorism, Proptosis, Long eyelashes, Umb... ORPHA:1507
Holoprosencephaly 3
Cyclopia, Proptosis, Hypotelorism OMIM:142945
Loeys-Dietz Syndrome 3
Inguinal hernia, Cataract, Hypertelorism, Cystocele, Atrophic scars, Proptosis, Camptodactyly, Ut... OMIM:613795
Craniosynostosis 4
Proptosis, Hypertelorism OMIM:600775
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Proptosis, Weight loss ORPHA:79078
X-Linked Intellectual Disability, Snyder Type
Hypertelorism, Sparse eyebrow, Synophrys, Proptosis, Camptodactyly ORPHA:3063
Zygomycosis
Chemosis, Cellulitis, Proptosis, Fasciitis ORPHA:73263
Mullegama-Klein-Martinez Syndrome
Curly eyelashes, Congenital diaphragmatic hernia, Low anterior hairline, Proptosis, High anterior... OMIM:301022
Branchioskeletogenital Syndrome
Absent nipple, Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Periorbital wrinkles, ... ORPHA:1299
Cherubism
Proptosis, Macular scar OMIM:118400
Atelosteogenesis, Type I
Proptosis, Hypertelorism OMIM:108720
Granulomatosis With Polyangiitis
Purpura, Proptosis, Skin ulcer, Weight loss ORPHA:900
Robinow Syndrome, Autosomal Recessive 1
Inguinal hernia, Hypertelorism, Proptosis, Long eyelashes, Umbilical hernia OMIM:268310
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Ankle flexion contracture, Hypertelorism, Elbow flexion contracture, K... OMIM:268300
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Proptosis, Dentinogenesis imperfecta OMIM:610915
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Hypertelo... OMIM:208150
Autosomal Dominant Robinow Syndrome
Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Curly eyelashes, Hyperteloris... ORPHA:3107
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Posterior... ORPHA:637
Noonan Syndrome
Abnormal hair quantity, Hypertelorism, Low posterior hairline, Coarse hair, Proptosis ORPHA:648
Erdheim-Chester Disease
Proptosis, Weight loss ORPHA:35687
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Proptosis, Hypertelorism ORPHA:2211
Robinow Syndrome
Small for gestational age, Hypertelorism, Proptosis, Umbilical hernia, High anterior hairline ORPHA:97360
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Absent eyebrow, Proptosis, Abnormal dental enamel morphology ORPHA:85199
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Sparse scalp hair, Inguinal hernia, Highly arched eyebrow, H... ORPHA:221120
Schinzel-Giedion Syndrome
Inguinal hernia, Failure to thrive in infancy, Hypertelorism, Generalized hypertrichosis, Shallow... ORPHA:798
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Proptosis, Minimal subcutaneous fat, Knee flexion contracture OMIM:210730
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Proptosis, Nail dystrophy, Shallo... OMIM:619127
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Holoprosencephaly 2
Cyclopia, Proptosis, Iris coloboma, Hypotelorism OMIM:157170
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Absent nipple, Sparse eyelashes, Sclerocornea, Small for gestational... OMIM:216340
Camurati-Engelmann Disease
Abnormal subcutaneous fat tissue distribution, Proptosis, Slender build, Cachexia ORPHA:1328
Kikuchi-Fujimoto Disease
Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega... ORPHA:50918
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Asymmet... OMIM:300166
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Highly arched eyebrow, Hypertelorism, Widow's peak, Proptosis, Umbilical hernia, Thi... ORPHA:1519
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Proptosis ORPHA:93315
Catel-Manzke Syndrome
Inguinal hernia, Hypertelorism, Proptosis, Thin eyebrow, Camptodactyly, Umbilical hernia OMIM:616145
Orofaciodigital Syndrome Type 4
Failure to thrive, Camptodactyly of finger, Proptosis, Hypertelorism ORPHA:2753
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, ... OMIM:273395
Loeys-Dietz Syndrome 1
Dermal translucency, Proptosis, Hypertelorism, Camptodactyly OMIM:609192
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
14Q22Q23 Microdeletion Syndrome
Proptosis, Hypertelorism ORPHA:264200
Loeys-Dietz Syndrome 2
Inguinal hernia, Hypertelorism, Proptosis, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:610168
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Unilateral deafness, Lens co... OMIM:619539
Meningioma
Proptosis, Obesity ORPHA:2495
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Proptosis ORPHA:163979
Robinow Syndrome, Autosomal Dominant 1
Inguinal hernia, Hypertelorism, Proptosis, Long eyelashes, Umbilical hernia OMIM:180700
Viss Syndrome
Sparse scalp hair, Inguinal hernia, Alopecia, Hypertelorism, Cutis laxa, Deeply set eye, Proptosi... OMIM:619472
Osteopetrosis, Autosomal Recessive 7
Proptosis OMIM:612301
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Loss of eyelashes, Proptosis, Thin eyebrow, Sparse hair ORPHA:2636
17Q11 Microdeletion Syndrome
Deeply set eye, Proptosis, Hypertelorism, Lisch nodules ORPHA:97685
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Inguinal hernia, Cataract, Alopecia, Sparse eyelashes, Congenital... OMIM:601803
Isolated Exencephaly
Proptosis ORPHA:563612
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypertelorism, Proptosis, Elbow flexion contracture, Knee flexion contracture OMIM:271665
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small for gestational age, Hypertelorism, Proptosis, Camptodactyly, Joint contracture of the hand OMIM:201750
Osteogenesis Imperfecta, Type Vii
Proptosis, Dentinogenesis imperfecta OMIM:610682
Tropical Endomyocardial Fibrosis
Proptosis, Cachexia ORPHA:75565
Craniosynostosis And Dental Anomalies
Proptosis, Hypertelorism OMIM:614188

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp469

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp469.

No publications found that use IMPC mice or data for Zfp469.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zfp469em1(IMPC)Mbp Intra-exon deletion Mice

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